Ocular findings in arteriohepatic dysplasia (Alagille's syndrome).
The ocular findings in a father and two offspring with arteriohepatic dysplasia are reported in this paper. All three people had bilateral posterior embryotoxon, Axenfeld's anomaly and a pigmentary retinopathy. Other ocular findings were exotropia, an ectopic pupil, band keratopathy, choroidal folds, anomalous optic discs and infantile myopia. Persons with arteriohepatic dysplasia typically present with prolonged neonatal jaundice. Cognizance of the associated eye findings helps distinguish this syndrome from other types of familial intrahepatic cholestasis.
D000328:Adult; D001653:Bile Ducts, Intrahepatic / Q000002:abnormalities; D002318:Cardiovascular Diseases / Q000150:complications*; D002675:Child, Preschool; D003119:Color Perception Tests; D005124:Eye Abnormalities; D005145:Face; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities; D007567:Jaundice, Neonatal / Q000150:complications*; D008297:Male; D013577:Syndrome; D013904:Thoracic Vertebrae / Q000002:abnormalities; D014792:Visual Acuity